Open AccessInherited and acquired lipodystrophies: molecular-genetic and autoimmune mechanisms
Author(s) -
Ekaterina Sorkina,
Соркина Екатерина Леонидовна,
Anatoly Tiulpakov,
Тюльпаков Анатолий Николаевич
Publication year - 2018
Publication title -
ožirenie i metabolizm
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.154
H-Index - 5
eISSN - 2306-5524
pISSN - 2071-8713
DOI - 10.14341/omet2018139-42
Subject(s) - lipodystrophy , etiology , genetics , medicine , gene , molecular genetics , human genetics , bioinformatics , biology , immunology , human immunodeficiency virus (hiv) , viral load , antiretroviral therapy
Lipodystrophy syndromes form a heterogenous group of inherited or acquired rare disorders, characterized by total (generalized lipodystrophy) or partial fat loss (partial lipodystrophy), usually accompanied by different metabolic disorders. Based on etiology lipodystrophies can be inherited or acquired. As a result of a significant progress in molecular genetics 20 new genes, associated with different lipodystrophy syndromes, were discovered during the last 20 years. However according to the majority of researchers data mutations in these causative genes are not found in approximately half of the patients. This might mean the need for both further molecular-genetic studies and the search for autoimmune factors playing a role in lipodystrophy syndromes etiology.